ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.696G>T (p.Ala232=)

dbSNP: rs398124394
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082181 SCV000114127 uncertain significance not provided 2016-07-27 criteria provided, single submitter clinical testing
Counsyl RCV000665517 SCV000789655 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2017-02-14 criteria provided, single submitter clinical testing
Invitae RCV001494780 SCV001699444 likely benign Walker-Warburg congenital muscular dystrophy 2023-12-05 criteria provided, single submitter clinical testing

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